Results 91 to 100 of about 4,103 (182)

A Patient-Reported Outcome Measure of Communication Difficulties in Friedreich Ataxia: COMATAX. [PDF]

Cerebellum
Buchholz M, Monier V, Ewenczyk C, Heinzmann A, Pierron L, Sayah S, Hilab R, Atencio M, Petit E, Bertrand F, Vallancien A, Diot C, Rouillon S, Nadke A, Feldmann K, Maas V, Faber J, Sarwinska D, Boesch SM, Indelicato E, Bischoff AT, Klopstock T, Schulz JB, Reetz K, Fleszar Z, Iskandar A, Klockgether T, Grobe-Einsler M, Xie F, Humphries B, Michalowsky B, Durr A, Borel S.   +32 more
europepmc   +1 more source

Transitional Life Events in Friedreich Ataxia: Differential Age at Onset Perspectives. [PDF]

Cerebellum
Iskandar A, Buchholz M, Sarwinska D, Borel S, Durr A, Atencio M, Ewenczyk C, Heinzmann A, Weber S, Hilab R, Xie F, Humphries B, Klockgether T, Grobe-Einsler M, Maas V, Feldmann K, Rouillon S, Nadke A, Davies EH, Minnerop M, Erdlenbruch F, Bischoff AT, Klopstock T, Fleszar Z, Boesch S, Indelicato E, Schulz JB, Reetz K, Michalowsky B.   +28 more
europepmc   +1 more source

Listening in Spatialized Noise-Sentences (LiSN-S) as a Measure of Auditory Function in Friedreich Ataxia. [PDF]

Cerebellum
Ali SAH, Early J, Farmer JM, Gelbard S, Corben L, Rance G, Lynch DR.   +6 more
europepmc   +1 more source

Nerve Ultrasound in Patients With Friedreich Ataxia. [PDF]

Muscle Nerve
Kneer K, Stahl JH, Winter N, Wittlinger J, Männlin S, Gasimli T, Schöls L, Fleszar Z, Hayer S, Grimm A.   +9 more
europepmc   +1 more source

Exploring US patient and caregiver perspectives on burden associated with Friedreich Ataxia. [PDF]

J Patient Rep Outcomes
Lawson R, Natarajan S, Correll JR, Clark A, Martin ML, Bushnell DM, Setyawan J.   +6 more
europepmc   +1 more source

Unrecognized high prevalence of expanded composite repeats in Friedreich ataxia. [PDF]

Hum Mol Genet
Devore MC, Lam C, Wiley G, Park CC, Lynch DR, Bidichandani SI.   +5 more
europepmc   +1 more source

Peripheral frataxin levels govern long-term clinical progression in Friedreich ataxia. [PDF]

BMJ Neurol Open
Rummey C, Blair IA, Mesaros C, Rojsajjakul T, Dong Y, Wilmot G, Zesiewicz T, Mathews K, Hoyle JC, Seeberger L, Corben LA, Delatycki MB, Finkel RS, Roxburgh RH, Duquette A, Yoon G, Gomez CM, Subramony SH, Perlman S, Mccormack S, Lynch DR.   +20 more
europepmc   +1 more source

Slowing the curve: a single-arm meta-analysis of mFARS outcomes following omaveloxolone treatment in Friedreich ataxia. [PDF]

BMJ Neurol Open
Ali A, Cheema WA, Nisar F, Reyaz U, Saad M, Talha M, Sarfraz S, Butt A, Shamoon M, Abdullah A, Shabbir MA, Talha M, Azam H, Abdullah M, Anwaar A.   +14 more
europepmc   +1 more source

FXN protomutations are the source of pathogenic expanded GAA alleles in Friedreich ataxia and explain its unequal population distribution. [PDF]

Hum Mol Genet
Devore MC, Lam C, Xiao E, Devore J, McCain KRC, Wiley G, Park CC, Lynch DR, Bidichandani SI.   +8 more
europepmc   +1 more source

Longitudinal analysis shows GAA1 length and baseline clinical status as robust predictors of progression in Friedreich ataxia. [PDF]

J Neurol
Manrique L, Martínez-Dubarbie F, Pelayo-Negro AL, Benitez-Calle N, Sanchez-Pelaez MV, Cota-Gonzalez D, Loza R, Martinez-Díaz R, Irure-Ventura J, Sanchez-Quintana C, Sanchez I, Matilla-Dueñas A, Infante J.   +12 more
europepmc   +1 more source